T49A (p.Thr49Ala) variant of HOGA1 (Q86XE5)
T49A (p.Thr49Ala) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- gnomAD 10-97584848-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM -0.01
- CADD 18.93
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available